Phenotype #0000331350

Individual ID 00441967
Associated disease MLC
Phenotype details 3y6m-deceased (seizures); seizures, macrocephaly; delayed early motor development; 20m-walk; delayed language development; epilepsy; no autism; no deterioration; intellectual disability (IQ50); OFC >98perc.; cranial nerves normal; hypotonia arms; clumsy with arms; hypotonia legs; clumsy with legs
Diagnosis/Initial improving megalencephalic leukoencephalopathy with subcortical cysts phenotype
Inheritance Unknown
Diagnosis/Definite MLC2B
Age/Examination 3y (3 years)
Age/Diagnosis -
Age/Onset 4m
Phenotype/Onset -
Protein -
Owner name Rogier Min
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-10-31 16:41:00 +01:00 (CET)
Date last edited N/A

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